G32C (p.Gly32Cys) variant of KDM6A (Lysine-specific demethylase 6A)
G32C (p.Gly32Cys) in KDM6A (Lysine-specific demethylase 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- gnomAD X-44873645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available